Success in Making The Spinal Cord Transparent
Stimulating damaged nerve cells to regenerate has been the goal of medicine. Now it is possible to trace nerve paths in a transparent spinal cord section.
Brain Glial Cells Are Much More Than Glue
Glia cells also regulate learning and memory, new research finds.
Stress Can Slow Skin Cancer, At Least Sometimes
Chronic stress is an affliction mostly limited to modern man. However, acute stress is an important response to dangerous situations and can speed recovery.
December 29, 2011--------News Archive
FDA Warning On Change to Infant Acetaminophen
Recent dosing changes to liquid infant acetaminophen, has the FDA urging parents to read the labels. The new form of the popular pain reliever is less concentrated.
Detox Your Diet!
Harvard School of Public Health wants us all to eat food without chemicals as much as possible to avoid changing our own and our kids' body chemistry.
Discovery of Brain Cell Malfunction in Schizophrenia
Schizophrenic brains reveal less flexibility in some histones (the spools that wind DNA) blocking gene function. The problem is more pronounced in young sufferers.
December 28, 2011--------News Archive
When "A Rose by Any Other Name" Is Not
Children and adults do not classify information in the same way.
Childhood Hypersensitivity Linked to OCD
Adult onset of Obsessive Compulsive Disorder could be connected to oral and tactile sensitivities seen in childhood.
Gene Critical for Development Linked to Arrhythmia
Altering the function of a gene called Tbx3 interferes with the development of the cardiac conduction system causing potentially lethal arrhythmias of the heartbeat.
December 27, 2011--------News Archive
Reversing Autoimmune Disease in Mice
A team of scientists has turned the tables on an autoimmune disease.
An Altered Gene Tracks RNA As It Edits Neurons
Biologists use technology to observe individual differences in fruit flies
Mother-Toddler Relationship Linked to Teen Obesity
The quality of the emotional relationship between a mother and her young child could affect the potential for that child to be obese during adolescence.
December 26, 2011--------News Archive
Severe Congenital Disorder Reversed in a Mouse
Adding a sugar to water during pregnancy protects embryos from defects.
lincRNAs Pivotal In Brain Development
Long intervening non-coding RNAs (lincRNAs) play key roles during brain development in zebrafish. Now human versions are substituting for the zebrafish.
Balancing the Womb
New research hopes to explain premature births and failed inductions of labor.
Using a mouse model, Heidelberg University Hospital researchers have for the first time successfully treated a severe congenital disorder in which sugar metabolism is disturbed.
Disorders of glycosylation (CDG) are caused by mutations in the genetic information for the enzyme Phosphomannomutase 2 which prevents Mannose-1-phosphate being produced in sufficient quantities. As a result, sugar chains that normally aid in the stability and function of glycoproteins are not completely attached and in some cases not attached at all, to the body’s proteins.
The lack of oligosaccharide chains leads to impaired neurological, growth and organ development. CDG only manifests if the baby inherits a mutated gene from both mother and father. Parents who each carry one mutated and one “healthy” copy of the gene don't exhibit any symptoms.
So far 1,000 children worldwide are affected by CDG disorders, which are classified as rare diseases. Affecting around 800 children, type CDG-Ia is the most frequent. The number of unreported cases is high, however. Children with CDG are severely physically and mentally disabled, and approx. 20 percent die before the age of two. To date, there is no treatment.
Mice Absorb Mannose Through Drinking Water
The mouse model developed by Prof. Körner and his team is characterized by mutations in the Phosphomannomutase 2 gene and demonstrates reduced enzyme activity, making them comparable with CDG-Ia in humans.
In this study, scientists exploited the ability of mannose to cross the placental barrier. This means that if the pregnant mouse takes up mannose, it also reaches the embryos in the uterus.
“One week prior to mating, we began giving the female mice mannose with their drinking water,” explained biochemist Prof. Körner. Increasing the mannose supply up to the time of birth increased the mannose levels in the embryos’ blood.
“The mice were born without defects and also after they were born, developed without any symptoms of the disorder, even if they no longer took up any mannose,” Körner added. The work performed by the researchers clearly shows the key role played by the supply of proteins with sugar chains during embryonic development.
“Clinical studies in the U.S. and Germany have already been performed in which children with CDG-Ia were given mannose after they were born, either orally or by intravenous infusion. Unfortunately, these attempts have not been successful,” explained Dr. Christian Thiel, head of the laboratory.
“This means that the critical point at which it is possible to influence development must be during development in the uterus.”
For women with a risk of CDG-Ia, administering mannose during pregnancy may serve as a new therapeutic approach.
'Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.' Anette Schneider, Christian Thiel, Jan Rindermann, Charles DeRossi, Diana Popovici, Georg F Hoffmann, Hermann-Josef Gröne & Christian Körner. Nature Medicine doi:10.1038/nm.2548
Prof. Dr. rer. nat. Christian Körner
Group leader Congenital Disorders of Glycosylation (CDG)
Center for Child and Adolescent Medicine
Heidelberg University Hospital
phone: +49 6221-56-39993
Heidelberg University Hospital and the Medical Faculty of Heidelberg University is among the largest and most renowned medical centers in Germany. The Medical Faculty of Heidelberg University ranges among the internationally relevant biomedical research institutes in Europe. The common goal is to develop new therapies and to apply them rapidly for the benefit of the patient. The Hospital and the Faculty have approximately 11,000 employees and are active in training and qualification. In more than 50 departments, clinics and special departments with about 2,000 hospital beds, approximately 600,000 patients receive inpatient and outpatient treatment each year. There are currently about 3,600 aspiring doctors studying medicine in Heidelberg; the Heidelberg Curriculum Medicinale (HeiCuMed) is at the top of medical teaching and training in Germany.
Original article: http://www.klinikum.uni-heidelberg.de/ShowSingleNews.